Autism and Genetics and the Environment
Autism is a “whole body medical disease, not a hopeless genetic mental disorder,” Julie Obradovic writes in a Chicago Tribune Features Blog today. Obradovic says that her daughter, Eve, started on a “cascading spiral”—a “descent into….autism”—starting from the time she was three weeks old and developed a “‘weepy, hot, burn-like rash all over her face.’” Eve then went through a number of “frightening and inexplicable physical ailments” and failed to meet developmental milestones (she did not crawl and walked at 17 months; this was the case with my son and with a close relative). When Eve was 3 1/2 years old, Obradovic “learned that she was injected with mercury at her most vulnerable stage of development” (when exactly is not specified) and sought treatment from a “doctor who specialized in the treatment of toxicity in children like her.” Within one year, as Obradovic writes,
….she was fully verbal, even though she still has a slight delay. She went from an intensive needs all day preschool setting to being a mainstreamed kindergartener without an aide. Today, she is thriving socially and academically.
Besides speech therapy, Obradovic does not mention any educational therapies that Eve received; keeping in mind that Obradovic views her daughter as having a “whole body medical disease,” mention of such may not be called for. From her description, autism is a biomedical condition such as neurologist Martha Herbert described in “Autism is a Whole Body Condition,” her 2006 keynote address to the Autism Society of America. The medical professional who diagnosed Obradovic’s daughter with autism, in accordance with DSM-IV criteria, is not specifically mentioned, and Eve’s physical ailments offered as what autism is.
I am myself very interested in the role of genetics in autism and reflect often upon the similiarities between Charlie and myself, and my husband Jim (whom, as I have noted, has ADHD, and was referred to as having “minimal brain damage” while in high school). These similiarities are not physical ailments, but patterns and ways of thinking, a tendency towards very focused attention or a great difficulty focusing, certain sensory preferences. Unlike Charlie, Jim and I are both very verbal, and both taught ourselves to read at the age of 4 years old. Obradovic notes at the end of her account that
“Genetics do play a role in making children susceptible, but the environmental insults of toxins, antibiotics, bacteria, fungi, and viruses must be introduced to cause the disease.”
This is a familiar statement that I have often read and heard in various formations, that a child may have a genetic “predisposition” to autism, or a weak immune system, etc., but that some “environmental factor” is “triggering” autism. Accordingly, here is a study that is not about autism, and that looks at the interaction of genes and the environment, Gene-Environment Interactions: When Nurture Wears a White Hat, by Charles Glatt of Weill Cornell Medical College, New York, NY, in the October 8th Scientific American. Glatt is writing about “how two different gene variants show their power — or not — depending on whether a child is abused, nurtured, or both.” “Environment” refers to the caretaking environment in which a child grows up:
A study led by Joan Kaufman and Joel Gelernter, both of Yale, and published in Biological Psychiatry, has demonstrated what many of us have intuitively concluded, which is that both nature and nurture contribute to who we are. In this particular study, genetic and environmental factors interact to determine risk for depression.
In their study, “Brain-Derived Neurotrophic Factor-5-HTTLPR Gene Interactions and Environmental Modifiers of Depression in Children,” Kaufman, Gelernter and colleagues found distinct gene-environment interactions in the risk for depressive symptoms. Other studies have found similar interactions, but looked mainly at interactions between single genetic and single environmental risk factors. This study ups the ante by examining various interactions among two genetic and two environmental factors, including a four-way interaction with two genetic and two environmental variables.
Kaufman and Gelertner noted changes in certain polymorphisms (genetic differences between individuals) — that have been implicated in depression. High levels of nurturing and social support seemed to be able to counteract depression in those at a genetic risk for it. Glatt writes, “…at least regarding these specific polymorphisms, nurture beats nature.”
To say, then, that autism is “genetic” is not tantamount to saying that a child will “always” be a certain way and will “never” learn certain things, and has received a sort of “genetic death sentence”: As epidemiologist Dr. Hsien-Hsien Lei writes today in regard to systems biology, which considered the “overall picture of how genes interact with each other and with the environment,” on Eye on DNA:
For complex diseases, simply having information on a few genes is not enough to predict a person’s risk of disease without leaving a great deal of room for doubt.
While life with my son who has autism is not always easy—-Charlie has half-days at school this week, and the shortened hours in the classroom and the overall change of his routine is unsettling—-it is certainly never hopeless, and Charlie has been through rather a lot for a boy of ten years old and some months and—while social and academic skills are longstanding challenges, he is very thriving, and I am glad to be his mother.
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POSTED IN: Diagnosis, Environment, Gender, Health, Psychiatry, Treatment, Vaccines
17 opinions for Autism and Genetics and the Environment
Brett
Oct 9, 2007 at 8:40 pm
Kristina,
Thank you once again for finding exactly the story I was looking for (even though I didn’t know I was looking for it!). I’ve been reading / researching the role of genes and environment in general, with an obvious interest in how this relates to autism. Unfortunately, most discussions of either seem to completely exclude any impact of the other.
It’s good to see a study that shows how they are both key. Even better to see how environment can positively affect genetics instead of the typical doom and gloom stories that seem to dominate.
Kristina Chew, PhD
Oct 9, 2007 at 10:49 pm
I was very excited to find that research study—while “environment” is not exactly used in regard to a substance like mercury, I was intrigued by how Kaufman and Gelertner looked at so many variables, and at their interactions. Down with doom and gloom….
amy
Oct 9, 2007 at 11:28 pm
I think it’s probably important to recall that when we say “depression”, we don’t really know what we’re talking about there, either. People vary wildly in the presentation of what’s diagnosed as depression; we don’t know whether it’s cause, consequence of, or coincident to other (equally shadowy) diagnoses. It’s a frequent misdiagnosis. So to say that nurture can reduce the incidence of depression — I think for that to be meaningful we’d need a more meaningful definition of “depression”.
I think all we can say at this point is that we don’t understand the physical basis of autism. That we still confuse “finding a gene” with “finding a cure” says to me that we have a long way to go in biology ed, and that we’re still suffering a hangover from the sensational genetic-research headlines of the 80s.
Kristina Chew, PhD
Oct 9, 2007 at 11:37 pm
And, the reasearchers are looking at children, in whom a diagnosis of depression may manifest itself differently.
Donna
Oct 10, 2007 at 8:18 am
Is genetic research into autism always looking for ‘bad’ genes? The most important aspect of the environment might be the other genes of the person. The mixture of genes might predispose someone to autism while still being all ‘good’ genes.
Julie
Oct 10, 2007 at 8:48 am
I am not sure why it is assumed that if you have e genetic disability that you can never improve. Children with downs syndrome and many other genetic developmental disabilities are able to learn and why would it be any different wih autism other than they do not all look a certain way. My cousin with downs syndrome is very impaired and was in a tmi room until he was 25 and now works on with a job coach and on a team, but I know through him and work many individuals who did not only learn to read but have gone to college and have jobs. I am not sure why it is not understood that you can have the same variences with autism especially sine they call it a spectrum disorder.
RAJ
Oct 10, 2007 at 2:04 pm
I didn’t see where the article discussed the most important finding since the turn of the decade. The decoding of the entire genome of a single healthy middle aged man. Everyone has thousands of genetic mutations in thousands of genes.
http://www.theglobeandmail.com/servlet/story/RTGAM.20070903.wgenemap0903/BNStory/Science/home
Picky Picky
Oct 10, 2007 at 5:40 pm
[…] two concerns of autism families, picky eating or “neophobia” and the interactions of genes and environment. According to an article in today’s New York Times: For parents who worry that their children […]
Estee Klar-Wolfond
Oct 10, 2007 at 6:59 pm
Did you read Gary Taubes article in the New Yor Times Magazine on September 27th on Epidemiology? It is called “Do We Really Know What Makes Us Healthy?” A very worthwhile read.
Estee Klar-Wolfond
Oct 10, 2007 at 7:01 pm
Excuse me, I meant September 16, 2007.
Kristina Chew, PhD
Oct 10, 2007 at 8:17 pm
Hi Estée—yes I did; I was thinking of writing something about epidemiology and its complications but did not get to it (yet….). Thanks for the reminder—
Laura Shumaker
Oct 10, 2007 at 10:08 pm
I hate to be a pessimist, but whenever I read reports of treatment and cure by kindergarten age, I say to myself “just wait till they get older-the social awkwardness will still be there” and if it’s not it was probably not autism to begin with.
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Oct 15, 2007 at 2:16 am
[…] Autism and Genetics and the EnvironmentOn the age-old question of nurture and, or vs., nature. […]
Joe Mele
Oct 15, 2007 at 12:03 pm
The joke about all these theories about the cause of autism have validity only because non autistics invented them. While a cause by rdos (rdos dot net) the neanderthal theory is ignored because he is an autistic. MSNBC.com just recently had an article about neanderthals in siberia and that they might have made it to asia.
George S
Oct 15, 2007 at 5:07 pm
The new crop: Trangenic children. Quite possibly. Are the genomes of these people undergoing modification? What of Asperger’s cases? I would say these autistics are involved in a program of augmentation. I have Aspergers myself. Mothers and their autistics will often have some memory of odd intervention in their lives.
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Oct 15, 2007 at 5:19 pm
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Nov 14, 2007 at 9:51 pm
[…] immune system, etc., but that some “environmental factor” is “triggering” autism: How do genes and the environment interact? Rice University physicist and bioengineer Michael Deem has a new theory about how the […]
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